nsv953323
- Organism: Homo sapiens
- Study:nstd73 (Dogan et al. 2014)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:93,800
- Publication(s):Dogan et al. 2014
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 275 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 224 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv953323 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 9,102,068 | 9,195,867 |
| nsv953323 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 9,940,901 | 10,034,700 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3000033 | duplication | SAMN01096093 | Sequencing | Read depth | 9,109 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3000033 | Remapped | Perfect | NC_000021.9:g.(910 2068_?)_(?_9195867 )dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 9,102,068 | 9,195,867 |
| nssv3000033 | Submitted genomic | NC_000021.8:g.(994 0901_?)_(?_1003470 0)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 9,940,901 | 10,034,700 |